(Q55671549)

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Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

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Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism (English)

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molecular chaperones

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intellectual disability

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based on heuristic

inferred from title

disability affecting intellectual abilities

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based on heuristic

inferred from title

microcephalic primordial dwarfism, Alazami type

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based on heuristic

inferred from title

Fowzan S Alkuraya

10

object named as

Fowzan S Alkuraya

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author name string

Anas M Alazami

1

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Mohammad Al-Owain

2

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Fatema Alzahrani

3

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Taghreed Shuaib

4

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Hussain Al-Shamrani

5

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Yahya H Al-Falki

6

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Saleh M Al-Qahtani

7

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Tarfa Alsheddi

8

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Dilek Colak

9

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language of work or name

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publication date

October 2012

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33

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10

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1429-34

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Novel CENPJ mutation causes Seckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

1 reference

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21 January 2018

7SK snRNP/P-TEFb couples transcription elongation with alternative splicing and is essential for vertebrate development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

7SK small nuclear RNA directly affects HMGA1 function in transcription regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Intracellular distribution of low molecular weight RNA species in HeLa cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

A La-related protein modulates 7SK snRNP integrity to suppress P-TEFb-dependent transcriptional elongation and tumorigenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Mechanisms and pathways of growth failure in primordial dwarfism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

LARP7 is a stable component of the 7SK snRNP while P-TEFb, HEXIM1 and hnRNP A1 are reversibly associated

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

MAQ1 and 7SK RNA interact with CDK9/cyclin T complexes in a transcription-dependent manner

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

CtIP Mutations Cause Seckel and Jawad Syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Inactivation of Palb2 gene leads to mesoderm differentiation defect and early embryonic lethality in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

The high mobility group A1 gene: transforming inflammatory signals into cancer?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Role of the cyclin-dependent kinase 9-related pathway in mammalian gene expression and human diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Brca2 is required for embryonic cellular proliferation in the mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Non-coding RNAs: regulators of disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

Inhibition of P-TEFb (CDK9/Cyclin T) kinase and RNA polymerase II transcription by the coordinated actions of HEXIM1 and 7SK snRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

The long and short of RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

21 January 2018

siRNA depletion of 7SK snRNA induces apoptosis but does not affect expression of the HIV-1 LTR or P-TEFb-dependent cellular genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22175

7 January 2021

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10.1002/HUMU.22175

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